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Prevalence and characteristics of dystrophin defects in adult male patients with dilated cardiomyopathy

Eloisa Arbustini, MD^*, Marta Diegoli, BD^*, Patrizia Morbini, MD^*, Barbara Dal Bello, MD^*, Nadia Banchieri, BD^*, Andrea Pilotto, TD^*, Filippo Magani, TD^*, Maurizia Grasso, PhD, Jagat Narula, MD, Antonello Gavazzi, MD, Mario Viganò, MD^|| and Luigi Tavazzi, MD

^* Pathology Department, IRCCS-Policlinico San Matteo, Pavia, Italy
Cardiology Department, IRCCS-Policlinico San Matteo, Pavia, Italy
^|| Cardiac Surgery Department Departments, IRCCS-Policlinico San Matteo, Pavia, Italy
Transplantation Experimental Laboratory, IRCCS-Policlinico San Matteo, Pavia, Italy
Allegheny University of Health Science, Philadelphia, Pennsylvania, USA

View larger version (35K): [in a new window]   Figure 1 Graph showing the prevalence of dystrophin defects-associated dilated cardiomyopathies in the overall series of 201 consecutive male patients, grouped by decades of age. Gray bar = DCM; Black bar = dystrophin defect DCM. DCM = dilated cardiomyopathy.

View larger version (23K): [in a new window]   Figure 2 Microsatellite analysis of families of probands 2 and 13. In the family of proband 2, four microsatellites were informative. In the family of proband 13, six microsatellites were informative. Sisters of both probands were shown to be noncarriers.

View larger version (100K): [in a new window]   Figure 3 Light micrographs from frozen sections of endomyocardial biopsy from patient #13, with deletions of exons 6–8, 12, 13, 16, 17, 19 and 44. The immunostain of rod domain (a) and N-terminus (c) is almost absent: only sporadic, possibly revertant fibers retain immunoreactivity; the expression of C-terminus is discontinuous or absent in some cells (b). Alpha (d) and gamma (e) sarcoglycan immunostains show focal interruptions and irregular intensity; beta dystroglycan (f) only shows minimal decrease. Merosin (g) is normally expressed. (Fluorescein-conjugated rabbit antimouse antibodies; a–g 280x, reduced by 60%).